Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient presented with microcephaly, mild facial dysmorphic features, central hypotonia and spasticity on all four extremities. Ultrasound imaging demonstrated the absence of septum pellucidum, semilobar fusion of the hemispheres and mega cisterna magna and brain MRI with confirmed the diagnosis of HPE. Early diagnosis and management are important for the prevention and treatment of complications associated with this condition.

D Nonkulovski

A Sofijanova

T Spasovska

Milanovski Gorjan

Lj Muaremoska-Kanzoska

T Arsov

Balkan Journal of Medical Genetics

BALKAN JOURNAL OF MEDICAL GENETICS 是一份英文期刊，用于发表涉及医学遗传学所有分支的文章：人类细胞遗传学、分子遗传学、临床遗传学、免疫遗传学、肿瘤遗传学、药物遗传学、群体遗传学、遗传筛查和单基因和多基因疾病的诊断、产前和植入前基因诊断、遗传咨询、治疗和预防方面的进展。

The Balkan Journal of Medical Genetics is an English-language journal dedicated to publishing articles covering all branches of medical genetics, including human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening, and advancements in the diagnosis of single-gene and multi-gene diseases, prenatal and preimplantation genetic diagnosis, genetic counseling, treatment, and prevention.

《Balkan Journal of Medical Genetics》是一份英文期刊，专注于医学遗传学的各个领域，包括人类细胞遗传学、分子遗传学、临床遗传学、免疫遗传学、肿瘤遗传学、药物遗传学、群体遗传学、遗传筛查，以及单基因和多基因疾病的诊断、产前和植入前基因诊断、遗传咨询、治疗和预防等方面的最新进展。

Category	Quartile
医学	4
医学, 遗传学	4

Semilobar Holoprosencephaly Caused by a Novel and De NovoZIC2Pathogenic Variant

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